Carrier detection for Sanfilippo A syndrome
Journal of Inherited Metabolic Disease1989Vol. 13(2), pp. 184–186
Abstract
Leukocytes from 21 obligate carriers in 12 Sanfilippo A families and 49 normal controls were assayed for heparan sulphamidase (EC 3.10.1.1) at 55 degrees C. At this assay temperature the results show an absolute distinction between heterozygous carriers and the normal controls.
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